Ehlers-Danlos Syndrome how to diagnose in adults
Ehlers-Danlos Syndrome (EDS) is a group of heritable connective tissue disorders characterized primarily by hyperextensible skin, hypermobile joints, and fragile tissues. While often diagnosed during childhood or adolescence, many adults remain undiagnosed due to the variability of symptoms and the subtlety of presentation. Accurate diagnosis in adults is crucial for effective management and to prevent complications such as joint dislocations, vascular issues, or wounds that heal poorly.
The diagnosis process begins with a thorough clinical history. Adults suspected of having EDS often report a history of joint hypermobility, frequent dislocations, skin that stretches easily or is unusually fragile, and prolonged wound healing with abnormal scars. A detailed family history is also essential, as many forms of EDS are inherited in an autosomal dominant pattern. Recognizing patterns across family members can provide vital clues, especially if relatives have similar symptoms.
Physical examination is the next critical step. Clinicians assess joint hypermobility using standardized tools such as the Beighton score, which evaluates the ability to perform specific hyperextensibility maneuvers. A score of four or more out of nine indicates significant hypermobility. Skin hyperextensibility is examined by gently stretching the skin on the forearm or other areas; overly stretchable and velvety skin suggests EDS. Bruising, atrophic scars, and soft, doughy skin are additional features to note.
Laboratory and genetic testing can support the clinical diagnosis but are not definitive for all EDS types. Modern genetic techniques include targeted gene panels, whole-exome sequencing, or specific tests for known mutations in genes like COL5A1 or COL3A1, associated with classical and vascular EDS, respectively. However, many cases, especially of hypermobile EDS, lack identifiable genetic markers, making clinical criteria paramount.
Imaging studies may be employed to assess joint stability and identify previous dislocations or subluxations. Ultrasound, MRI, or X-rays can reveal joint damage, ligament laxity, or vascular abnormalities in some cases. In vascular EDS, specialized vascular imaging might identify arterial aneurysms or dissections, which require careful management.
Multidisciplinary assessment is often necessary, involving rheumatologists, geneticists, cardiologists, and dermatologists. This collaboration helps confirm the diagnosis and formulate a personalized management plan. It’s essential to educate patients about the nature of their condition, potential complications, and lifestyle modifications to reduce injury risk.
Since no single test confirms EDS in adults, diagnosis relies heavily on clinical judgment combined with supportive genetic testing. Recognizing the spectrum of symptoms and understanding the inheritance patterns are key to identifying EDS in adults who might have been overlooked during earlier life stages. Early diagnosis allows for proactive management, including physical therapy, joint protection strategies, and monitoring for vascular or organ complications, significantly improving quality of life and long-term outcomes.
